Living with SRD5A3-congenital disorder of glycosylation
An inherited condition that mainly affects the brain and vision, with low muscle tone and balance problems.
Understanding SRD5A3-congenital disorder of glycosylation
Signs usually begin in infancy or early childhood, and how severe they are varies widely. Most people have intellectual disability, vision problems, unusual facial features, low muscle tone, and trouble with balance. Eye problems can include shaking eye movements, a gap in an eye structure, and early vision loss. Cataracts or glaucoma may develop over time. Some have skin rash, small red blood cells (anemia), or liver problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability and delayed development
- Low muscle tone as a baby
- Balance and coordination problems (ataxia)
- Vision loss and optic nerve changes
- Shaking eye movements (nystagmus)
- Cataracts
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SRD5A3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CDG CARE may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: CDG CARE
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CDG CARE and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SRD5A3 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cdg iq; cdg syndrome type iq; cdg-iq; cdg1q; coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities; congenital disorder of glycosylation type 1q
Patient organizations
- CDG CARESRD5A3-congenital disorder of glycosylation · United States
- CDG & Allies - PPAINSRD5A3-congenital disorder of glycosylation · Children's Skin Disease Foundation
You are more than your diagnosis
Perspectives from people navigating life with SRD5A3-congenital disorder of glycosylation.
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